A.T. Pereira

Sleep and behavioral/emotional problems in children: A population-based study

BACKGROUND The potential relationships between sleep-wake behaviors and emotional/disruptive problems in otherwise healthy school-aged children are unclear. METHODS A parental questionnaire was developed for the epidemiologic survey of childrens sleep and wake behavioral patterns. The questions covered a wide range of features including sleep length (school days, weekends), time to fall asleep, night awakenings, bedtime and nighttime sleep-related behaviors, daytime sleepiness, irritability, and tiredness. To assess psychiatric symptomatology, the Rutter Scale B2 was completed by teachers. In addition to the total score, sub-scores of emotional, hyperactivity, and conduct problems were obtained. The representative population sample comprised 779 children (403 girls), with an age range of 6-11 years. RESULTS Hyperactivity and conduct problems at school in boys were both associated with parental reports of bedtime resistance. Hyperactivity was also associated with longer sleep duration during weekends. Conduct and emotional problems in girls were associated with earlier bedtime during school days. Emotional problems in girls were also associated with longer sleep durations in school days and weekends. CONCLUSION Bedtime resistance was the only sleep behavior associated with either hyperactivity or conduct problems in children, and longer sleep durations appear to occur more frequently in children with both hyperactive or emotional problems. Information about good sleep hygiene at bedtime may help parents setting sleep limits.

Profile of depressive symptoms in women in the perinatal and outside the perinatal period: similar or not?

PURPOSES To analyze which Beck Depression Inventory-II (BDI-II) and Postpartum Depression Screening Scores (PDSS) total and dimensional scores, as well as symptomatic answers proportions significantly differ between women in the perinatal period (pregnant/postpartum) without major depression, with major depression and women outside the perinatal period. METHODS 572 pregnant women in the third trimester completed Beck Depression Inventory-II and Postpartum Depression Screening Scale and were assessed with the Diagnostic Interview for Genetic Studies. 417 of these were also assessed (with the same instruments) at three months postpartum. Ninety non-pregnant women or that did not have a child in the last year (mean age=29.42±7.159 years) also filled in the questionnaires. RESULTS Non-depressed pregnant women showed lower scores than depressed pregnant women and higher scores than women outside the perinatal period in the BDI-II total score and in its Somatic-Anxiety dimension. Non-depressed postpartum women showed significantly higher scores than women outside the perinatal period only at Sleep/Eating Disturbances. Compared to women outside the perinatal period, pregnant women without depression presented higher scores only in the somatic items. Women with vs. without depression in the postpartum period did not significantly differ and both presented higher scores than women outside the perinatal period in the proportions of loss of energy and sleep changes. LIMITATIONS Women outside the perinatal period were not diagnosed for the presence of a depressive disorder, but their BDI-II mean score was similar to the figures reported worldwide regarding women in childbearing age. CONCLUSION In the perinatal period, most particularly at pregnancy, women experience significant somatic changes even if not clinically depressed. Cognitive-affective symptoms are more useful when assessing the presence of perinatal depression.

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.

We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.

A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene

We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy.

Perseverative Negative Thinking Mediates the Relationship Between Perfectionism Cognitions and Oc Symptoms

Introduction Perfectionism and Perseverative negative thinking/PNT are both associatedwith OC symptoms. PNT is a prime candidate when investigating the pathway thatlinks perfectionism to psychopathology. Objectives To investigate if PNT mediates the relationshipbetween perfectionismcognitions and OC symptoms. Methods 464 (72.5%females) students (mean age 22.5±4.5 years) participated in an online surveyincluding the Portuguese validated versions of Maudsley O-C Inventory/MOCI (toassess Doubting and Rumination/DR, Checking and Cleaning), PerseverativeThinking Questionnaire/PTQ-15 (Repetitive Thought/RT, Cognitive interferenceand unproductiveness/CIU), Multidimensional Perfectionism CognitionsInventory/MPCI (Concern over Mistakes/CM, Personal Standards/PS, Pursuit of Perfection/PP). Negative affect/NA was assessed with the Profile of Mood States. Results Significantpredictors of MOCI_Total were PP (b=.131),RT (b=.228)and CIU (b=.254)(all p DR waspredicted by CM (b=.107),PP (b=.107),RT (b=.333)and CIU (b=.281)(all p Checkingwas predicted by PP (b=.120), RT (b=.154) andCIU (b=.267)(all p Cleaning wasonly predicted by PP (b=.174; p=.001). QPP-15_Totaland IMCP_Total were mediators of the association of MOCI_Total (and itsdimensions DR and Checking) with NA.

A novel SRY nonsense mutation in a case of Swyer syndrome

Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell have a female appearance. They generally have female external genitalia, a normal uterus and Fallopian tubes, but no functional gonads. Its prevalence is about 1 in 30,000 births. Mutations in the SRY gene have been identified in 15-20% of the cases. The authors present the clinical case of a female fetus, who was the first child of young, healthy, unrelated parents, with increased nuchal translucency in first trimester ultrasonography and combined risk for Down syndrome of 1/20. Prenatal karyotype was 46,XY. Delivery occured at 37 weeks gestation by cesarean section. Uneventful neonatal period. At birth she had adequate weight and height and presented complete female external genitalia with no other abnormalities. Pelvic ultrasound showed normal morphology of the uterus, ovaries were not visualized. Hormonal study was normal. Repeated postnatal karyotype confirmed 46,XY. Follow-up on Neonatology Consultation as outpatient. Abdomino-pelvic MRI (3 months old) showed presence of uterus with normal dimensions and appearance and ovaries not clearly defined. The molecular genetic testing revealed the Q 114X (c.340 C>T) mutation of the SRY gene, a nonsense mutation that as not been described. Early diagnosis of Swyer syndrome in childhood is only possible if a karyotype is carried out for other reasons, such as for example as part of prenatal diagnosis (as it happened with our patient). This prompt diagnosis is important for early institution of hormone replacement therapy and close monitoring, because of the risk of gonadal malignancy. Clinical and imaging surveillance is mandatory in order to program early gonadectomy if necessary. In our patient, the novel mutation detected in the SRY gene may be an aetiopathogenic factor in clinically defined 46,XY complete gonadal dysgenesis.

1635 – The correlates of positive affect in pregnancy and postpartum

Introduction Positive affect (PA) is correlated to several positive outcomes and might be a constituent of happiness (Lyubomirsky et al., 2005). Objectives To investigate the correlates of PA in pregnancy and postpartum. Methods 397 pregnant women (T0) were also followed at 3 months postpartum (T1). At both time-points, they completed a questionnaire, the Postpartum Depression Screening Scale (PDSS), the Profile of Mood States (POMS), and were also interviewed with some sections of the Diagnostic Interview for Genetic studies (DIGS). Descriptive and correlation analyses were performed. Results T0/T1 PA scores were correlated (p Conclusions PA is a protective emotional trait, a good indicator of physical/mental health, and well-being in perinatal period. Mothers PA influences her perception of the infant temperament and may contribute positively to the dyadic interaction.

2095 – The portuguese frost mutidimensional perfectionism scale and mood states in portuguese college students

Introduction Perfectionism has been a topic of increased interest in recent years. Findings from the literature have shown that perfectionism is associated in the development and maintenance of a wide range of psychopathological conditions. Objectives/aims 1) to analyze the psychometric properties of the Portuguese version of the Frost Multidimensional Perfectionism Scale (FMPS); 2) to explore the associations between perfectionism dimensions and positive/negative affectivity. Methods 217 students from two Portuguese Universities filled in the FMPS and the Profile of Mood States (POMS). A subgroup (n=166) completed a retest of the FMPS with a four weeks interval. Results Scale reliability was good (Cronbach alpha = .857). Corrected item-total correlations ranged from .019 and .548, and were higher than .2 for most of the items. Test-retest reliability suggested a good temporal stability for FMPS total score (r=.765). A principal component analysis with Varimax rotation was performed and based on Scree plot, two robust factorial structures were suggested (four and six factors). The more maladaptive dimensions of perfectionism were significantly and positively associated with negative affect and negatively associated with positive affect. Depression and anxiety/hostility dimensions are both positively associated with concern over mistakes (respectively, r=.338, r=.360, p Conclusions The Portuguese version of FMPS showed good reliability and internal consistency. The perfectionism personality trait is associated with mood states.

Acute neonatal appendicitis: the potential value of laparoscopy as a diagnostic and therapeutic tool

Abstract Appendicitis is the most common cause of acute abdominal pain requiring surgical intervention in children, but it is very rare in infants and neonates. Nonspecific clinical features and low index of suspicion make its diagnosis and management particularly challenging, which may result in high chances of complications such as perforation and peritonitis, thus increasing morbidity and mortality. We present the case of a female late preterm newborn with bloody stools and bilious gastric aspirates on the second day of life. After 24 h of clinical, laboratory and radiological surveillance, which evidenced deterioration in the newborn’s condition, an exploratory laparoscopy was performed, showing generalized peritonitis and perforated inflammatory appendix. A laparoscopic appendicectomy was performed. Histology confirmed the appendicitis diagnosis. The authors enhance the value of diagnostic laparoscopy and its potential as a therapeutic tool in neonates.

Quiste hepático simple congénito: un desafío diagnóstico y terapéutico

El quiste hepático simple (QHS) es una de las posibles etiologı́as de quistes abdominales detectados casualmente en el perı́odo prenatal durante la realización de una ecografı́a de control. El diagnóstico prenatal exacto es difı́cil de establecer debido a su rareza y los múltiples diagnósticos diferenciales que deben tenerse en cuenta. El tipo de parto, ya sea vaginal o por cesárea, y el correcto manejo de estas lesiones son también motivo de debate. Algunos autores defienden una intervención prenatal, mientras que otros prefieren decidir el tratamiento en el perı́odo posnatal, debido a la descripción de algunos casos de resolución espontánea y al posible mayor riesgo asociado con las diferentes opciones de tratamiento en comparación con el de la lesión en sı́. Presentamos un caso de un quiste hepático diagnosticado en el perı́odo prenatal, discutimos la opción terapéutica y realizamos una revisión de los raros casos similares descritos en la bibliografı́a. Observación clı́nica